Elston D’Souza
DPhil Student and Computational Research Assistant
Elston is a DPhil Student and Computational Research Assistant affiliated with the Computational Rare Disease Genomics Lab, operating under the supervision of Associate Professor Nicky Whiffin and Professor Stephan Sanders.
Elston’s primary research leverages large next generation sequencing studies to learn about the mechanisms behind deleterious variants and their role in rare genetic disease. Additionally, he is interested in developing accessible computational tools to enable rare disease discovery such as VuTR.
Elston earned a Bachelor of Biomedicine (Degree with Honours) from the University of Melbourne. Additionally, Elston previously worked as a research assistant at the Centre for Population Genomics at the Murdoch Children’s Research Institute in Melbourne, Australia.
Recent publications
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature
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Modulation of prion protein expression through cryptic splice site manipulation.
Journal article
Gentile JE. et al, (2024), J Biol Chem